Marfan’s syndrome

Learning objectives

• Describe Marfan’s syndrome
• Recognize signs and symptoms of Marfan’s syndrome
• Anesthetic management of a patient with Marfan’s syndrome

Definition and mechanisms

• Marfan’s syndrome (MFS) is an autosomal dominant condition of connective tissue, mainly involving the cardiovascular, musculoskeletal, and ocular systems
• MFS is caused by a mutation in the FBN1 gene on chromosome 15 that encodes the protein fibrillin
• The connective tissue abnormalities lead to connective tissue weakness with hyperextensible joints, eyes (dislocation of the lens), increased risk of valvular/aortic dissection, and spontaneous pneumothorax

Signs and symptoms

• Ocular: Lens dislocation, myopia, retinal detachment, glaucoma
• Cardiovascular: Aortic root dilatation with aortic regurgitation, aneurysm formation, aortic dissection, mitral valve prolapse with mitral regurgitation
• Musculoskeletal: Long bone overgrowth, scoliosis, kyphosis, joint hypermobility, pectus carinatum/excavatum, high-arched palate
• Respiratory: Spontaneous pneumothorax
• Skin: Striae
• Central nervous system: Dural ectasia

Complications

• Patients with MFS and left ventricular dilatation are at risk of ventricular arrhythmias
• Aortic root diameter >4 cm carries a risk of aortic dissection

Treatment

• Medications
  • β-blockers 
  • Calcium channel blockers or ACE inhibitors if β-blockers are contraindicated/not tolerated
• Surgery to repair the aorta or replace a heart valve

Management

Obstetric anesthesia

• If no symptoms and aorta diameter <4 cm: No special considerations and vaginal delivery ok
• If aortic root dilation and aortic regurgitation: Multidisciplinary management with cardiology/cardiac surgery/obstetrics
• Some recommend caesarean section if aorta diameter >4.5 cm and labor if aorta diameter >4 and <4.5 cm
• Problems
  • Airway might be even more difficult 
  • Neuraxial anesthesia for vaginal delivery and caesarean section
  • Aortic dilatation with risk of dissection or rupture
  • Perform monthly echocardiography during pregnancy
  • Reduce shear forces on aorta
  • Consider very early epidural placement
  • Need for invasive monitoring
  • Drug therapy to prevent hypertension and tachycardia (e.g., labetalol)
• Dural ectasia
  • Higher risk for failed epidural, dural puncture, and postdural puncture headache
  • Consider CT/MRI

Keep in mind

• Prevent a sudden increase in myocardial contractility, producing an increase in aortic wall tension, which could lead to aortic dissection
• Preexisting cardiovascular disease and the potential for acute cardiovascular and respiratory complications in patients with MFS require careful preoperative assessment and the use of a skillful anesthetic technique to avoid fatal complications
• Blood pressure control is the central component of perioperative management

Suggested reading

• Araújo MR, Marques C, Freitas S, Santa-Bárbara R, Alves J, Xavier C. Marfan Syndrome: new diagnostic criteria, same anesthesia care? Case report and review. Braz J Anesthesiol. 2016;66(4):408-413.
• Castellano JM, Silvay G, Castillo JG. Marfan Syndrome: Clinical, Surgical, and Anesthetic Considerations. Seminars in Cardiothoracic and Vascular Anesthesia. 2014;18(3):260-271. 
• Allyn J, Guglielminotti J, Omnes S, Guezouli L, Egan M, Jondeau G, Longrois D, Montravers P. Marfan’s Syndrome During Pregnancy: Anesthetic Management of Delivery in 16 Consecutive Patients. Anesthesia & Analgesia. 2013;116(2): 392-398.
• Marfan Syndrome. In: Bissonnette B, Luginbuehl I, Marciniak B, Dalens BJ. eds. Syndromes: Rapid Recognition and Perioperative Implications. McGraw Hill; 2006. Accessed January 26, 2023.

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